ClinVar Miner

Submissions for variant NM_020762.4(SRGAP1):c.1849C>T (p.Arg617Cys)

gnomAD frequency: 0.00101  dbSNP: rs114817817
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
OMIM RCV000190473 SCV000245356 risk factor Thyroid cancer, nonmedullary, 2 2013-05-01 no assertion criteria provided literature only
PreventionGenetics, part of Exact Sciences RCV003937675 SCV004754913 likely benign SRGAP1-related disorder 2021-09-24 no assertion criteria provided clinical testing This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).

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